{"id":"W2037116272","doi":"10.1007/s00439-011-0975-z","title":"Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia","year":2011,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":281,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital; Hôpital Rivière-des-Prairies; Centre Hospitalier Universitaire Sainte-Justine; Montreal General Hospital; McGill University Health Centre; Université de Montréal; University of British Columbia; McGill University; Douglas Mental Health University Institute; Centre Hospitalier de l’Université de Montréal","funders":"Canadian Institutes of Health Research; Université de Montréal; National Institute of Mental Health; Génome Québec; Genome Canada","keywords":"Neurexin; Autism; Biology; Schizophrenia (object-oriented programming); Mutation; Genetics; Copy-number variation; Autism spectrum disorder; Intellectual disability; Pervasive developmental disorder; Developmental disorder; Neuroscience; Gene; Postsynaptic potential; Psychiatry; Psychology; Genome","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007208216,0.00009642333,0.0000831939,0.00006855946,0.00007346109,0.00001790567,0.00006245293,0.00007129542,0.00002186369],"category_scores_gemma":[0.000006584728,0.0001070335,0.00001454222,0.00005226899,0.00007988291,0.000003363676,0.0000769855,0.00006314471,0.000001337553],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008084394,"about_ca_system_score_gemma":0.00002457386,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001948856,"about_ca_topic_score_gemma":0.004015811,"domain_scores_codex":[0.9993967,0.00002855619,0.0001764038,0.0002011906,0.00003681485,0.000160295],"domain_scores_gemma":[0.9997867,0.00000434252,0.00003887557,0.0001282726,0.000004352717,0.00003750448],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005320787,0.0002155656,0.9011423,0.00007187085,0.00004257418,0.000008492146,0.008301802,0.0001651832,0.04947114,0.03548329,0.00003027466,0.005014318],"study_design_scores_gemma":[0.0008537121,0.0001601507,0.9751315,0.00001274224,0.000009489058,0.00001051521,0.000557579,0.0001568923,0.005024023,0.01751886,0.0003664638,0.0001980483],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974344,0.0008047273,0.00006630534,0.00007726417,0.00002820146,0.0001041347,0.000007364021,0.000004760157,0.001472892],"genre_scores_gemma":[0.9975979,0.0003386136,0.001823135,0.00002684329,0.00002664121,0.00001447113,0.0000287183,0.00001238699,0.0001312589],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07398925,"threshold_uncertainty_score":0.4364699,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01298060589133056,"score_gpt":0.219739062067325,"score_spread":0.2067584561759945,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}